Variant report

Variant	nsv963073
Chromosome Location	chr19:53576593-53580049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:53576460-53576610	NHEK	skin:	n/a	n/a
2	POLR2A	chr19:53578731-53578897	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:53577756-53577903	ProgFib	skin:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53578782-53578832	GM19239	blood:	n/a
2	chr19:53578782-53578832	AG09309	skin:	n/a
3	chr19:53578782-53578832	SAEC	small airway:	n/a
4	chr19:53578782-53578832	AG09319	gingival:	n/a
5	chr19:53578782-53578832	HAEpiC	amniotic membrane:	n/a
6	chr19:53578782-53578832	ProgFib	skin:	n/a
7	chr19:53578782-53578832	K562	blood:	n/a
8	chr19:53578782-53578832	NHBE	bronchial:	n/a
9	chr19:53578782-53578832	GM12891	blood:	n/a
10	chr19:53578782-53578832	HCT-116	colon:	n/a
11	chr19:53578782-53578832	HRPEpiC	eye:	n/a
12	chr19:53578782-53578832	HCF	heart:	n/a
13	chr19:53578782-53578832	GM12878	blood:	n/a
14	chr19:53578782-53578832	Caco-2	colon:	n/a
15	chr19:53578782-53578832	SK-N-SH	brain:	n/a
16	chr19:53578782-53578832	NHDF-neo	bronchial:	n/a
17	chr19:53578782-53578832	SK-N-SH_RA	brain:	n/a
18	chr19:53578782-53578832	CMK	blood:	n/a
19	chr19:53578782-53578832	ovcar-3	ovarian:	n/a
20	chr19:53578782-53578832	HIPEpiC	eye:	n/a
21	chr19:53578782-53578832	GM06990	blood:	n/a
22	chr19:53578782-53578832	Hela-S3	cervix:	n/a
23	chr19:53578782-53578832	NB4	blood:	n/a
24	chr19:53578782-53578832	U87	brain:	n/a
25	chr19:53578782-53578832	T-47D	breast:	n/a
26	chr19:53578782-53578832	LNCaP	prostate:	n/a
27	chr19:53578782-53578832	NH-A	brain:	n/a
28	chr19:53578782-53578832	HNPCEpiC	eye:	n/a
29	chr19:53578782-53578832	BE2_C	brain:	n/a
30	chr19:53578782-53578832	HRE	kidney:	n/a
31	chr19:53578782-53578832	HEK293	kidney:	embryo
32	chr19:53578782-53578832	HPAEpiC	pulmonary alveolar:	n/a
33	chr19:53578782-53578832	RPTEC	kidney:	n/a
34	chr19:53578782-53578832	HCM	heart:	n/a
35	chr19:53578782-53578832	AG04450	lung:	fetal
36	chr19:53578782-53578832	AG04449	skin:	fetal
37	chr19:53578782-53578832	SKMC	muscle:	n/a
38	chr19:53578782-53578832	GM12892	blood:	n/a
39	chr19:53578782-53578832	A549	lung:	n/a
40	chr19:53578782-53578832	AG10803	skin:	n/a
41	chr19:53578782-53578832	HUVEC	blood vessel:	n/a
42	chr19:53578782-53578832	MCF-7	breast:	n/a
43	chr19:53578782-53578832	HCPEpiC	choroid plexus:	n/a
44	chr19:53578782-53578832	SK-N-MC	brain:	n/a
45	chr19:53578782-53578832	PFSK-1	brain:	n/a
46	chr19:53578782-53578832	NT2-D1	testis:	n/a
47	chr19:53578782-53578832	HEEpiC	esophagus:	n/a
48	chr19:53578782-53578832	MCF10A-Er-Src	breast:	n/a
49	chr19:53578782-53578832	IMR90	lung:	fetal
50	chr19:53578782-53578832	Jurkat	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:53557284..53559670-chr19:53575484..53577211,2	K562	blood:
2	chr19:53569932..53571505-chr19:53575389..53577141,2	K562	blood:
3	chr19:53571470..53573279-chr19:53575256..53577909,2	K562	blood:
4	chr19:53576657..53578759-chr19:53604780..53606841,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF160	TF binding region
ZNF160	CpG island
ENSG00000170949	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114810540	chr19:53576604-53576605	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs181551677	chr19:53576609-53576610	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs141468198	chr19:53576662-53576663	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369042180	chr19:53576671-53576672	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146926818	chr19:53576672-53576673	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571043954	chr19:53576685-53576686	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539621803	chr19:53576769-53576770	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557974778	chr19:53576786-53576787	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570004057	chr19:53576828-53576829	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537706928	chr19:53576958-53576959	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543123056	chr19:53577009-53577010	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555786591	chr19:53577031-53577032	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573947934	chr19:53577034-53577035	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149525641	chr19:53577035-53577036	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372470660	chr19:53577036-53577037	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374198952	chr19:53577054-53577055	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546018518	chr19:53577060-53577061	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528293049	chr19:53577131-53577132	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553485331	chr19:53577132-53577133	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs578179328	chr19:53577156-53577157	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545216594	chr19:53577166-53577167	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185817932	chr19:53577179-53577180	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575354037	chr19:53577200-53577201	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10412805	chr19:53577214-53577215	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561042648	chr19:53577231-53577232	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369436203	chr19:53577242-53577243	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528073871	chr19:53577244-53577245	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565039715	chr19:53577262-53577263	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142058904	chr19:53577263-53577264	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532435929	chr19:53577270-53577271	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559344933	chr19:53577306-53577307	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550268300	chr19:53577332-53577333	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs144281927	chr19:53577394-53577395	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs8105668	chr19:53577419-53577420	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs142350854	chr19:53577420-53577421	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374134545	chr19:53577421-53577422	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116367935	chr19:53577422-53577423	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs35978151	chr19:53577436-53577437	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs377678615	chr19:53577453-53577454	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567895175	chr19:53577469-53577470	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs144142923	chr19:53577487-53577488	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34742982	chr19:53577517-53577518	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs370995556	chr19:53577553-53577554	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs568488023	chr19:53577554-53577555	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373600150	chr19:53577570-53577571	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553446553	chr19:53577580-53577581	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs578078738	chr19:53577637-53577638	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539089278	chr19:53577648-53577649	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs167918	chr19:53577668-53577669	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538511212	chr19:53577730-53577731	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53564400-53577000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:53564600-53586800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:53564800-53586600	ZNF genes & repeats	Liver	Liver
4	chr19:53566200-53577400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:53567800-53576800	ZNF genes & repeats	Fetal Muscle Leg	muscle
6	chr19:53568000-53580600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
7	chr19:53568000-53586400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:53568200-53577000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:53568200-53580600	ZNF genes & repeats	Lung	lung
10	chr19:53568400-53577800	ZNF genes & repeats	Fetal Intestine Large	intestine
11	chr19:53568400-53580600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr19:53568400-53588600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:53569000-53579200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:53569400-53576800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr19:53569400-53577000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:53569400-53578600	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr19:53569600-53579400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:53570000-53582000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:53570200-53577000	ZNF genes & repeats	Colonic Mucosa	Colon
20	chr19:53570200-53579200	ZNF genes & repeats	Ovary	ovary
21	chr19:53570200-53580600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
22	chr19:53570200-53580800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
23	chr19:53570200-53587400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:53570400-53578400	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr19:53570400-53578400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:53570400-53578800	ZNF genes & repeats	Thymus	Thymus
27	chr19:53570400-53580400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
28	chr19:53570600-53589600	ZNF genes & repeats	GM12878-XiMat	blood
29	chr19:53570800-53577200	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr19:53571000-53579200	ZNF genes & repeats	Aorta	Aorta
31	chr19:53571000-53580600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr19:53571000-53587200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
33	chr19:53571400-53577600	ZNF genes & repeats	Spleen	Spleen
34	chr19:53571400-53580600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
35	chr19:53571800-53577600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
36	chr19:53571800-53579200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:53571800-53581200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
38	chr19:53571800-53583400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:53571800-53586000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
40	chr19:53571800-53586600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
41	chr19:53572000-53577000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:53572000-53579200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:53572200-53580400	ZNF genes & repeats	Esophagus	oesophagus
44	chr19:53572600-53579400	Strong transcription	Brain Cingulate Gyrus	brain
45	chr19:53573200-53578600	Strong transcription	Brain Hippocampus Middle	brain
46	chr19:53573400-53578200	Strong transcription	Fetal Kidney	kidney
47	chr19:53573400-53578400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:53573400-53578400	Strong transcription	Brain Germinal Matrix	brain
49	chr19:53573400-53579200	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr19:53573400-53579600	Strong transcription	Stomach Smooth Muscle	stomach

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